Abstract Body

In line with historically confirmed concepts of disturbed immunosurveillance as a hallmark of cancer, the increased risk of malignancies in patients with long-term pharmacological immunosuppression or acquired immunodeficiency, and the success of immunotherapeutical approaches against various types of malignancies, the risk of malignancies is substantially increased in inborn errors of immunity (IEI). Therefore, it is not surprising, that, after autoimmunity and autoinflammation, malignancies have stepped into the limelight as a prime feature of IEI.

The observed distribution of different types of cancer among the subtypes of IEI, together with recent advances of large-scale analyses of the mutational landscapes of germline mutations in cancer patient cohorts, formed the basis of an attempt to classify the typical mechanisms of the increased risk of malignancies in IEI, and to draw a structured 4D-map of IEI to look for in certain types of malignancies.

Similar to other cancer predisposition syndromes, the approach to establish the diagnosis of IEI, as well as subsequent patient management and screening, nowadays, needs to incorporate counseling for the risk of malignancies and timing appropriate diagnostic measures. In addition to basic scientific studies on molecular underpinnings, not least, awareness is key to improve the diagnosis of an IEI-associated malignancy in order to tailor and optimize treatment.

Abstract Body

This lecture will report on the malignancy risk in variuous immune dysregulation syndromes such as CTLA4 insufficiency, LRBA deficiency, and NFkB insufficiency. Case reports will illustrate the topic. Treatment options will be reviewed. A final quiz will test the knowledge of the audience.